MCID: EMR002
MIFTS: 16

Emerinopathy

Categories: Rare diseases

Aliases & Classifications for Emerinopathy

MalaCards integrated aliases for Emerinopathy:

Name: Emerinopathy 20

Classifications:



Summaries for Emerinopathy

MalaCards based summary : Emerinopathy is related to emery-dreifuss muscular dystrophy and muscular dystrophy. An important gene associated with Emerinopathy is EMD (Emerin), and among its related pathways/superpathways are Cell Cycle, Mitotic and Cytoskeletal Signaling. Related phenotype is muscle.

Related Diseases for Emerinopathy

Diseases related to Emerinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 29.5 SUN2 LMNA EMD
2 muscular dystrophy 29.5 SUN2 LMNA EMD
3 rigid spine muscular dystrophy 1 29.4 LMNA EMD
4 laminopathy 29.1 SUN2 LMNA EMD
5 dilated cardiomyopathy 28.8 SUN2 LMNA EMD
6 emery-dreifuss muscular dystrophy 7, autosomal dominant 9.9 SUN2 EMD
7 cardiac conduction defect 9.9
8 muscle hypertrophy 9.9
9 left ventricular noncompaction 9.9
10 sick sinus syndrome 9.9
11 muscular atrophy 9.9
12 limb-girdle muscular dystrophy 9.9
13 familial sick sinus syndrome 9.9
14 atrial standstill 9.9
15 reynolds syndrome 9.8 SUN2 LMNA
16 x-linked emery-dreifuss muscular dystrophy 9.8 LMNA EMD
17 muscular disease 9.8 LMNA EMD
18 first-degree atrioventricular block 9.8 LMNA EMD
19 lipodystrophy, familial partial, type 5 9.8 LMNA EMD
20 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.8 LMNA EMD
21 osteopoikilosis 9.7 LMNA EMD
22 autosomal dominant limb-girdle muscular dystrophy 9.7 LMNA EMD
23 buschke-ollendorff syndrome 9.7 LMNA EMD
24 pelger-huet anomaly 9.7 LMNA EMD
25 cardiomyopathy, dilated, 1a 9.7 LMNA EMD
26 familial partial lipodystrophy 9.7 LMNA EMD
27 cardiomyopathy, dilated, 1b 9.7 LMNA EMD
28 bethlem myopathy 1 9.7 LMNA EMD
29 congenital fiber-type disproportion 9.7 LMNA EMD
30 muscle tissue disease 9.7 LMNA EMD
31 atrial standstill 1 9.6 LMNA EMD
32 walker-warburg syndrome 9.6 LMNA EMD
33 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.5 SUN2 LMNA EMD
34 arrhythmogenic right ventricular cardiomyopathy 9.5 LMNA EMD
35 emery-dreifuss muscular dystrophy 3, autosomal recessive 9.5 SUN2 LMNA EMD
36 charcot-marie-tooth disease, axonal, type 2b1 9.5 SUN2 LMNA EMD
37 charcot-marie-tooth disease 9.5 SUN2 LMNA EMD
38 myopathy, x-linked, with postural muscle atrophy 9.5 SUN2 LMNA EMD
39 myopathy 9.5 SUN2 LMNA EMD
40 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.5 SUN2 LMNA EMD
41 greenberg dysplasia 9.5 SUN2 LMNA EMD
42 emery-dreifuss muscular dystrophy 1, x-linked 9.5 SUN2 LMNA EMD
43 spinocerebellar ataxia, autosomal recessive 8 9.5 SUN2 LMNA EMD
44 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.5 SUN2 LMNA EMD
45 cardiomyopathy, dilated, 1h 9.5 SUN2 LMNA EMD
46 hutchinson-gilford progeria syndrome 9.5 SUN2 LMNA EMD
47 muscular dystrophy, congenital, lmna-related 9.5 SUN2 LMNA EMD
48 neuromuscular disease 9.5 SUN2 LMNA EMD
49 congenital myasthenic syndrome 9.4 LMNA EMD

Graphical network of the top 20 diseases related to Emerinopathy:



Diseases related to Emerinopathy

Symptoms & Phenotypes for Emerinopathy

MGI Mouse Phenotypes related to Emerinopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 EMD LMNA SUN2

Drugs & Therapeutics for Emerinopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies) Recruiting NCT03058185

Search NIH Clinical Center for Emerinopathy

Genetic Tests for Emerinopathy

Anatomical Context for Emerinopathy

Publications for Emerinopathy

Articles related to Emerinopathy:

# Title Authors PMID Year
1
Genetic Testing for Early Onset Atrial Arrhythmias Changes Clinical Management: 2 Cases of Cardiac Emerinopathy. 61
33516708 2021
2
Cardiac Emerinopathy: A Nonsyndromic Nuclear Envelopathy With Increased Risk of Thromboembolic Stroke Due to Progressive Atrial Standstill and Left Ventricular Noncompaction. 61
32755394 2020
3
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy. 61
27179216 2016
4
Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland. 61
24839233 2014
5
Muscle MRI in female carriers of emerinopathy. 61
24118169 2013
6
P-wave duration and dispersion in patients with Emery-Dreifuss muscular dystrophy. 61
22011621 2011
7
Circulating tenascin-C levels in patients with dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy. 61
21596026 2011
8
Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest. 61
20054742 2009
9
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 61
18646565 2007
10
Presence of emerinopathy in cases of rigid spine syndrome. 61
9829281 1998

Variations for Emerinopathy

Expression for Emerinopathy

Search GEO for disease gene expression data for Emerinopathy.

Pathways for Emerinopathy

Pathways related to Emerinopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.59 SUN2 LMNA EMD
2 11.86 LMNA EMD
3
Show member pathways
11.79 SUN2 LMNA
4
Show member pathways
11.43 LMNA EMD
5 11.14 LMNA EMD
6
Show member pathways
10.14 LMNA EMD

GO Terms for Emerinopathy

Cellular components related to Emerinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear inner membrane GO:0005637 9.16 SUN2 EMD
2 nuclear membrane GO:0031965 9.13 SUN2 LMNA EMD
3 nuclear envelope GO:0005635 8.8 SUN2 LMNA EMD

Biological processes related to Emerinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.16 LMNA EMD
2 nuclear envelope organization GO:0006998 8.96 SUN2 LMNA
3 mitotic nuclear envelope reassembly GO:0007084 8.62 LMNA EMD

Sources for Emerinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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